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<meta name="keywords" content="C5769581, alexander disease infantile form, alexander disease type i, alexander's disease infantile form, axd (alexander disease) type i, axd type i, disease or syndrome, infantile alexander disease, infantile alexander's disease, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="An astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=1820954
ConceptID=C5769581
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Alexander disease type I</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1820954</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5769581</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Alexander disease infantile form; Alexander's disease infantile form; AxD (Alexander disease) type I; AxD type I; Infantile Alexander disease; Infantile Alexander's disease</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Alexander disease infantile form (1259106002); Infantile Alexander disease (1259106002); Infantile Alexander's disease (1259106002); Alexander's disease infantile form (1259106002); Alexander disease type I (1259106002); AxD (Alexander disease) type I (1259106002)</td></tr>
<tr><td>Modes of inheritance:</td>
<td>
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms&#10;that cannot be identified in NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">CN307044</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</a><span> (Orphanet)</span></div></td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0018209" target="_blank">MONDO:0018209</a></td></tr>
<tr><td>Orphanet:</td>
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&amp;Expert=363717">ORPHA363717</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">An astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration. [from <a title="Orphanet Rare Disease Ontology (ORDO)" href="http://www.orphadata.org/cgi-bin/inc/ordo_orphanet.inc.php" class="defSource" target="_blank">ORDO</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Alexander disease type I</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/14319" ref="tree=MeSH" title="MedGen record for Congenital, Hereditary, and Neonatal Diseases and Abnormalities">Congenital, Hereditary, and Neonatal Diseases and Abnormalities</a></span><ul><li><span class="TLline"><a href="/medgen/181981" ref="tree=MeSH" title="MedGen record for Inborn genetic diseases">Inborn genetic diseases</a></span><ul><li><span class="TLline"><a href="/medgen/6323" ref="tree=MeSH" title="MedGen record for Inborn errors of metabolism">Inborn errors of metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/156005" ref="tree=MeSH" title="MedGen record for Brain Diseases, Metabolic, Inborn">Brain Diseases, Metabolic, Inborn</a></span><ul><li><span class="TLline"><a href="/medgen/148407" ref="tree=MeSH" title="MedGen record for Hereditary Central Nervous System Demyelinating Diseases">Hereditary Central Nervous System Demyelinating Diseases</a></span><ul><li><span class="TLline"><a href="/medgen/78724" ref="tree=MeSH" title="MedGen record for Alexander disease">Alexander disease</a></span><ul><li><span class="matched_ds">Alexander disease type I</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/36893254">Droplet-based forward genetic screening of astrocyte-microglia cross-talk.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wheeler MA,
Clark IC,
Lee HG,
Li Z,
Linnerbauer M,
Rone JM,
Blain M,
Akl CF,
Piester G,
Giovannoni F,
Charabati M,
Lee JH,
Kye YC,
Choi J,
Sanmarco LM,
Srun L,
Chung EN,
Flausino LE,
Andersen BM,
Rothhammer V,
Yano H,
Illouz T,
Zandee SEJ,
Daniel C,
Artis D,
Prinz M,
Abate AR,
Kuchroo VK,
Antel JP,
Prat A,
Quintana FJ</span><br />
<span class="medgenPMjournal">Science</span>
2023 Mar 10;379(6636):1023-1030.
Epub 2023 Mar 9
doi: 10.1126/science.abq4822.
<span class="bold">PMID: </span><a href="/pubmed/36893254" target="_blank">36893254</a><a href="/pmc/articles/PMC10066924" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35180797">Endoscopic management of subepithelial lesions including neuroendocrine neoplasms: European Society of Gastrointestinal Endoscopy (ESGE) Guideline.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Deprez PH,
Moons LMG,
OʼToole D,
Gincul R,
Seicean A,
Pimentel-Nunes P,
Fernández-Esparrach G,
Polkowski M,
Vieth M,
Borbath I,
Moreels TG,
Nieveen van Dijkum E,
Blay JY,
van Hooft JE</span><br />
<span class="medgenPMjournal">Endoscopy</span>
2022 Apr;54(4):412-429.
Epub 2022 Feb 18
doi: 10.1055/a-1751-5742.
<span class="bold">PMID: </span><a href="/pubmed/35180797" target="_blank">35180797</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32004793">The management of desmoid tumours: A joint global consensus-based guideline approach for adult and paediatric patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Desmoid Tumor Working Group</span><br />
<span class="medgenPMjournal">Eur J Cancer</span>
2020 Mar;127:96-107.
Epub 2020 Jan 28
doi: 10.1016/j.ejca.2019.11.013.
<span class="bold">PMID: </span><a href="/pubmed/32004793" target="_blank">32004793</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(alexander%20disease%20type%20i)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (105)</a></div></div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/36945734">Effects of oral semaglutide on cardiovascular outcomes in individuals with type 2 diabetes and established atherosclerotic cardiovascular disease and/or chronic kidney disease: Design and baseline characteristics of SOUL, a randomized trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McGuire DK,
Busui RP,
Deanfield J,
Inzucchi SE,
Mann JFE,
Marx N,
Mulvagh SL,
Poulter N,
Engelmann MDM,
Hovingh GK,
Ripa MS,
Gislum M,
Brown-Frandsen K,
Buse JB</span><br />
<span class="medgenPMjournal">Diabetes Obes Metab</span>
2023 Jul;25(7):1932-1941.
Epub 2023 Apr 11
doi: 10.1111/dom.15058.
<span class="bold">PMID: </span><a href="/pubmed/36945734" target="_blank">36945734</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35700142">Design of the COmbinatioN effect of FInerenone anD EmpaglifloziN in participants with chronic kidney disease and type 2 diabetes using a UACR Endpoint study (CONFIDENCE).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Green JB,
Mottl AK,
Bakris G,
Heerspink HJL,
Mann JFE,
McGill JB,
Nangaku M,
Rossing P,
Scott C,
Gay A,
Agarwal R</span><br />
<span class="medgenPMjournal">Nephrol Dial Transplant</span>
2023 Mar 31;38(4):894-903.
doi: 10.1093/ndt/gfac198.
<span class="bold">PMID: </span><a href="/pubmed/35700142" target="_blank">35700142</a><a href="/pmc/articles/PMC10064838" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35741851">Dominant Stickler Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Soh Z,
Richards AJ,
McNinch A,
Alexander P,
Martin H,
Snead MP</span><br />
<span class="medgenPMjournal">Genes (Basel)</span>
2022 Jun 18;13(6)
doi: 10.3390/genes13061089.
<span class="bold">PMID: </span><a href="/pubmed/35741851" target="_blank">35741851</a><a href="/pmc/articles/PMC9222743" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31536404">Shift Work and Poor Mental Health: A Meta-Analysis of Longitudinal Studies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Torquati L,
Mielke GI,
Brown WJ,
Burton NW,
Kolbe-Alexander TL</span><br />
<span class="medgenPMjournal">Am J Public Health</span>
2019 Nov;109(11):e13-e20.
Epub 2019 Sep 19
doi: 10.2105/AJPH.2019.305278.
<span class="bold">PMID: </span><a href="/pubmed/31536404" target="_blank">31536404</a><a href="/pmc/articles/PMC6775929" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27634125">AL (Light-Chain) Cardiac Amyloidosis: A Review of Diagnosis and Therapy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Falk RH,
Alexander KM,
Liao R,
Dorbala S</span><br />
<span class="medgenPMjournal">J Am Coll Cardiol</span>
2016 Sep 20;68(12):1323-41.
doi: 10.1016/j.jacc.2016.06.053.
<span class="bold">PMID: </span><a href="/pubmed/27634125" target="_blank">27634125</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alexander%20disease%20type%20I%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (838)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37326322">Cardiovascular Safety of Testosterone-Replacement Therapy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lincoff AM,
Bhasin S,
Flevaris P,
Mitchell LM,
Basaria S,
Boden WE,
Cunningham GR,
Granger CB,
Khera M,
Thompson IM Jr,
Wang Q,
Wolski K,
Davey D,
Kalahasti V,
Khan N,
Miller MG,
Snabes MC,
Chan A,
Dubcenco E,
Li X,
Yi T,
Huang B,
Pencina KM,
Travison TG,
Nissen SE;
TRAVERSE Study Investigators</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2023 Jul 13;389(2):107-117.
Epub 2023 Jun 16
doi: 10.1056/NEJMoa2215025.
<span class="bold">PMID: </span><a href="/pubmed/37326322" target="_blank">37326322</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37037945">A proteo-transcriptomic map of non-alcoholic fatty liver disease signatures.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Govaere O,
Hasoon M,
Alexander L,
Cockell S,
Tiniakos D,
Ekstedt M,
Schattenberg JM,
Boursier J,
Bugianesi E,
Ratziu V;
LITMUS Investigators,
Daly AK,
Anstee QM</span><br />
<span class="medgenPMjournal">Nat Metab</span>
2023 Apr;5(4):572-578.
Epub 2023 Apr 10
doi: 10.1038/s42255-023-00775-1.
<span class="bold">PMID: </span><a href="/pubmed/37037945" target="_blank">37037945</a><a href="/pmc/articles/PMC10132975" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30415629">Vitamin D Supplements and Prevention of Cancer and Cardiovascular Disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Manson JE,
Cook NR,
Lee IM,
Christen W,
Bassuk SS,
Mora S,
Gibson H,
Gordon D,
Copeland T,
D'Agostino D,
Friedenberg G,
Ridge C,
Bubes V,
Giovannucci EL,
Willett WC,
Buring JE;
VITAL Research Group</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2019 Jan 3;380(1):33-44.
Epub 2018 Nov 10
doi: 10.1056/NEJMoa1809944.
<span class="bold">PMID: </span><a href="/pubmed/30415629" target="_blank">30415629</a><a href="/pmc/articles/PMC6425757" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27634125">AL (Light-Chain) Cardiac Amyloidosis: A Review of Diagnosis and Therapy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Falk RH,
Alexander KM,
Liao R,
Dorbala S</span><br />
<span class="medgenPMjournal">J Am Coll Cardiol</span>
2016 Sep 20;68(12):1323-41.
doi: 10.1016/j.jacc.2016.06.053.
<span class="bold">PMID: </span><a href="/pubmed/27634125" target="_blank">27634125</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25738250">Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Eckardt KU,
Alper SL,
Antignac C,
Bleyer AJ,
Chauveau D,
Dahan K,
Deltas C,
Hosking A,
Kmoch S,
Rampoldi L,
Wiesener M,
Wolf MT,
Devuyst O;
Kidney Disease: Improving Global Outcomes</span><br />
<span class="medgenPMjournal">Kidney Int</span>
2015 Oct;88(4):676-83.
Epub 2015 Mar 4
doi: 10.1038/ki.2015.28.
<span class="bold">PMID: </span><a href="/pubmed/25738250" target="_blank">25738250</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alexander%20disease%20type%20I%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (516)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/38785209">Effects of Semaglutide on Chronic Kidney Disease in Patients with Type 2 Diabetes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Perkovic V,
Tuttle KR,
Rossing P,
Mahaffey KW,
Mann JFE,
Bakris G,
Baeres FMM,
Idorn T,
Bosch-Traberg H,
Lausvig NL,
Pratley R;
FLOW Trial Committees and Investigators</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2024 Jul 11;391(2):109-121.
Epub 2024 May 24
doi: 10.1056/NEJMoa2403347.
<span class="bold">PMID: </span><a href="/pubmed/38785209" target="_blank">38785209</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36945734">Effects of oral semaglutide on cardiovascular outcomes in individuals with type 2 diabetes and established atherosclerotic cardiovascular disease and/or chronic kidney disease: Design and baseline characteristics of SOUL, a randomized trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McGuire DK,
Busui RP,
Deanfield J,
Inzucchi SE,
Mann JFE,
Marx N,
Mulvagh SL,
Poulter N,
Engelmann MDM,
Hovingh GK,
Ripa MS,
Gislum M,
Brown-Frandsen K,
Buse JB</span><br />
<span class="medgenPMjournal">Diabetes Obes Metab</span>
2023 Jul;25(7):1932-1941.
Epub 2023 Apr 11
doi: 10.1111/dom.15058.
<span class="bold">PMID: </span><a href="/pubmed/36945734" target="_blank">36945734</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36331190">Empagliflozin in Patients with Chronic Kidney Disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">The EMPA-KIDNEY Collaborative Group,
Herrington WG,
Staplin N,
Wanner C,
Green JB,
Hauske SJ,
Emberson JR,
Preiss D,
Judge P,
Mayne KJ,
Ng SYA,
Sammons E,
Zhu D,
Hill M,
Stevens W,
Wallendszus K,
Brenner S,
Cheung AK,
Liu ZH,
Li J,
Hooi LS,
Liu W,
Kadowaki T,
Nangaku M,
Levin A,
Cherney D,
Maggioni AP,
Pontremoli R,
Deo R,
Goto S,
Rossello X,
Tuttle KR,
Steubl D,
Petrini M,
Massey D,
Eilbracht J,
Brueckmann M,
Landray MJ,
Baigent C,
Haynes R</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2023 Jan 12;388(2):117-127.
Epub 2022 Nov 4
doi: 10.1056/NEJMoa2204233.
<span class="bold">PMID: </span><a href="/pubmed/36331190" target="_blank">36331190</a><a href="/pmc/articles/PMC7614055" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30874963">Metformin: Mechanisms in Human Obesity and Weight Loss.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yerevanian A,
Soukas AA</span><br />
<span class="medgenPMjournal">Curr Obes Rep</span>
2019 Jun;8(2):156-164.
doi: 10.1007/s13679-019-00335-3.
<span class="bold">PMID: </span><a href="/pubmed/30874963" target="_blank">30874963</a><a href="/pmc/articles/PMC6520185" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30415629">Vitamin D Supplements and Prevention of Cancer and Cardiovascular Disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Manson JE,
Cook NR,
Lee IM,
Christen W,
Bassuk SS,
Mora S,
Gibson H,
Gordon D,
Copeland T,
D'Agostino D,
Friedenberg G,
Ridge C,
Bubes V,
Giovannucci EL,
Willett WC,
Buring JE;
VITAL Research Group</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2019 Jan 3;380(1):33-44.
Epub 2018 Nov 10
doi: 10.1056/NEJMoa1809944.
<span class="bold">PMID: </span><a href="/pubmed/30415629" target="_blank">30415629</a><a href="/pmc/articles/PMC6425757" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alexander%20disease%20type%20I%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (504)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/32004793">The management of desmoid tumours: A joint global consensus-based guideline approach for adult and paediatric patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Desmoid Tumor Working Group</span><br />
<span class="medgenPMjournal">Eur J Cancer</span>
2020 Mar;127:96-107.
Epub 2020 Jan 28
doi: 10.1016/j.ejca.2019.11.013.
<span class="bold">PMID: </span><a href="/pubmed/32004793" target="_blank">32004793</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31536404">Shift Work and Poor Mental Health: A Meta-Analysis of Longitudinal Studies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Torquati L,
Mielke GI,
Brown WJ,
Burton NW,
Kolbe-Alexander TL</span><br />
<span class="medgenPMjournal">Am J Public Health</span>
2019 Nov;109(11):e13-e20.
Epub 2019 Sep 19
doi: 10.2105/AJPH.2019.305278.
<span class="bold">PMID: </span><a href="/pubmed/31536404" target="_blank">31536404</a><a href="/pmc/articles/PMC6775929" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30415629">Vitamin D Supplements and Prevention of Cancer and Cardiovascular Disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Manson JE,
Cook NR,
Lee IM,
Christen W,
Bassuk SS,
Mora S,
Gibson H,
Gordon D,
Copeland T,
D'Agostino D,
Friedenberg G,
Ridge C,
Bubes V,
Giovannucci EL,
Willett WC,
Buring JE;
VITAL Research Group</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2019 Jan 3;380(1):33-44.
Epub 2018 Nov 10
doi: 10.1056/NEJMoa1809944.
<span class="bold">PMID: </span><a href="/pubmed/30415629" target="_blank">30415629</a><a href="/pmc/articles/PMC6425757" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27634125">AL (Light-Chain) Cardiac Amyloidosis: A Review of Diagnosis and Therapy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Falk RH,
Alexander KM,
Liao R,
Dorbala S</span><br />
<span class="medgenPMjournal">J Am Coll Cardiol</span>
2016 Sep 20;68(12):1323-41.
doi: 10.1016/j.jacc.2016.06.053.
<span class="bold">PMID: </span><a href="/pubmed/27634125" target="_blank">27634125</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27424812">Antiretroviral Therapy for the Prevention of HIV-1 Transmission.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cohen MS,
Chen YQ,
McCauley M,
Gamble T,
Hosseinipour MC,
Kumarasamy N,
Hakim JG,
Kumwenda J,
Grinsztejn B,
Pilotto JH,
Godbole SV,
Chariyalertsak S,
Santos BR,
Mayer KH,
Hoffman IF,
Eshleman SH,
Piwowar-Manning E,
Cottle L,
Zhang XC,
Makhema J,
Mills LA,
Panchia R,
Faesen S,
Eron J,
Gallant J,
Havlir D,
Swindells S,
Elharrar V,
Burns D,
Taha TE,
Nielsen-Saines K,
Celentano DD,
Essex M,
Hudelson SE,
Redd AD,
Fleming TR;
HPTN 052 Study Team</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2016 Sep 1;375(9):830-9.
Epub 2016 Jul 18
doi: 10.1056/NEJMoa1600693.
<span class="bold">PMID: </span><a href="/pubmed/27424812" target="_blank">27424812</a><a href="/pmc/articles/PMC5049503" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alexander%20disease%20type%20I%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (447)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/35809588">Estimates, trends, and drivers of the global burden of type 2 diabetes attributable to PM(2·5) air pollution, 1990-2019: an analysis of data from the Global Burden of Disease Study 2019.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">GBD 2019 Diabetes and Air Pollution Collaborators</span><br />
<span class="medgenPMjournal">Lancet Planet Health</span>
2022 Jul;6(7):e586-e600.
doi: 10.1016/S2542-5196(22)00122-X.
<span class="bold">PMID: </span><a href="/pubmed/35809588" target="_blank">35809588</a><a href="/pmc/articles/PMC9278144" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35331984">Comparative effectiveness of statins on non-high density lipoprotein cholesterol in people with diabetes and at risk of cardiovascular disease: systematic review and network meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hodkinson A,
Tsimpida D,
Kontopantelis E,
Rutter MK,
Mamas MA,
Panagioti M</span><br />
<span class="medgenPMjournal">BMJ</span>
2022 Mar 24;376:e067731.
doi: 10.1136/bmj-2021-067731.
<span class="bold">PMID: </span><a href="/pubmed/35331984" target="_blank">35331984</a><a href="/pmc/articles/PMC8943592" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31536404">Shift Work and Poor Mental Health: A Meta-Analysis of Longitudinal Studies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Torquati L,
Mielke GI,
Brown WJ,
Burton NW,
Kolbe-Alexander TL</span><br />
<span class="medgenPMjournal">Am J Public Health</span>
2019 Nov;109(11):e13-e20.
Epub 2019 Sep 19
doi: 10.2105/AJPH.2019.305278.
<span class="bold">PMID: </span><a href="/pubmed/31536404" target="_blank">31536404</a><a href="/pmc/articles/PMC6775929" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26567243">Mayo Clinic/Renal Pathology Society Consensus Report on Pathologic Classification, Diagnosis, and Reporting of GN.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sethi S,
Haas M,
Markowitz GS,
D'Agati VD,
Rennke HG,
Jennette JC,
Bajema IM,
Alpers CE,
Chang A,
Cornell LD,
Cosio FG,
Fogo AB,
Glassock RJ,
Hariharan S,
Kambham N,
Lager DJ,
Leung N,
Mengel M,
Nath KA,
Roberts IS,
Rovin BH,
Seshan SV,
Smith RJ,
Walker PD,
Winearls CG,
Appel GB,
Alexander MP,
Cattran DC,
Casado CA,
Cook HT,
De Vriese AS,
Radhakrishnan J,
Racusen LC,
Ronco P,
Fervenza FC</span><br />
<span class="medgenPMjournal">J Am Soc Nephrol</span>
2016 May;27(5):1278-87.
Epub 2015 Nov 13
doi: 10.1681/ASN.2015060612.
<span class="bold">PMID: </span><a href="/pubmed/26567243" target="_blank">26567243</a><a href="/pmc/articles/PMC4849835" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25738250">Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Eckardt KU,
Alper SL,
Antignac C,
Bleyer AJ,
Chauveau D,
Dahan K,
Deltas C,
Hosking A,
Kmoch S,
Rampoldi L,
Wiesener M,
Wolf MT,
Devuyst O;
Kidney Disease: Improving Global Outcomes</span><br />
<span class="medgenPMjournal">Kidney Int</span>
2015 Oct;88(4):676-83.
Epub 2015 Mar 4
doi: 10.1038/ki.2015.28.
<span class="bold">PMID: </span><a href="/pubmed/25738250" target="_blank">25738250</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alexander%20disease%20type%20I%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (561)</a></div></div>
</div>
<div class="portlet mgSection" id="ID_104">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/39608381">Effects of GLP-1 receptor agonists on kidney and cardiovascular disease outcomes: a meta-analysis of randomised controlled trials.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Badve SV,
Bilal A,
Lee MMY,
Sattar N,
Gerstein HC,
Ruff CT,
McMurray JJV,
Rossing P,
Bakris G,
Mahaffey KW,
Mann JFE,
Colhoun HM,
Tuttle KR,
Pratley RE,
Perkovic V</span><br />
<span class="medgenPMjournal">Lancet Diabetes Endocrinol</span>
2025 Jan;13(1):15-28.
Epub 2024 Nov 25
doi: 10.1016/S2213-8587(24)00271-7.
<span class="bold">PMID: </span><a href="/pubmed/39608381" target="_blank">39608381</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38871093">The fibroblast hormone Endotrophin is a biomarker of mortality in chronic diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Genovese F,
Bager C,
Frederiksen P,
Vazquez D,
Sand JMB,
Jenkins RG,
Maher TM,
Stewart ID,
Molyneaux PL,
Fahy WA,
Wain LV,
Vestbo J,
Nanthakumar C,
Shaker SB,
Hoyer N,
Leeming DJ,
George J,
Trebicka J,
Rasmussen DGK,
Hansen MK,
Cockwell P,
Kremer D,
Bakker SJ,
Selby NM,
Reese-Petersen AL,
González A,
Núñez J,
Rossing P,
Nissen NI,
Boisen MK,
Chen IM,
Zhao L,
Karsdal MA,
Schuppan D</span><br />
<span class="medgenPMjournal">Matrix Biol</span>
2024 Sep;132:1-9.
Epub 2024 Jun 11
doi: 10.1016/j.matbio.2024.06.003.
<span class="bold">PMID: </span><a href="/pubmed/38871093" target="_blank">38871093</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37579248">Systemic Therapy for Melanoma: ASCO Guideline Update.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Seth R,
Agarwala SS,
Messersmith H,
Alluri KC,
Ascierto PA,
Atkins MB,
Bollin K,
Chacon M,
Davis N,
Faries MB,
Funchain P,
Gold JS,
Guild S,
Gyorki DE,
Kaur V,
Khushalani NI,
Kirkwood JM,
McQuade JL,
Meyers MO,
Provenzano A,
Robert C,
Santinami M,
Sehdev A,
Sondak VK,
Spurrier G,
Swami U,
Truong TG,
Tsai KK,
van Akkooi A,
Weber J</span><br />
<span class="medgenPMjournal">J Clin Oncol</span>
2023 Oct 20;41(30):4794-4820.
Epub 2023 Aug 14
doi: 10.1200/JCO.23.01136.
<span class="bold">PMID: </span><a href="/pubmed/37579248" target="_blank">37579248</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35331984">Comparative effectiveness of statins on non-high density lipoprotein cholesterol in people with diabetes and at risk of cardiovascular disease: systematic review and network meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hodkinson A,
Tsimpida D,
Kontopantelis E,
Rutter MK,
Mamas MA,
Panagioti M</span><br />
<span class="medgenPMjournal">BMJ</span>
2022 Mar 24;376:e067731.
doi: 10.1136/bmj-2021-067731.
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<div class="nl"><a target="_blank" href="/pubmed/31536404">Shift Work and Poor Mental Health: A Meta-Analysis of Longitudinal Studies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Torquati L,
Mielke GI,
Brown WJ,
Burton NW,
Kolbe-Alexander TL</span><br />
<span class="medgenPMjournal">Am J Public Health</span>
2019 Nov;109(11):e13-e20.
Epub 2019 Sep 19
doi: 10.2105/AJPH.2019.305278.
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